Genomic testing is becoming part of routine care. But access to testing is not the same as confidence in using it, and a growing body of evidence suggests the clinician relationship is what determines whether patients engage at all.
A systematic review published in the European Journal of Human Genetics examined 19 studies involving over 3,500 consumers, exploring how patients experience genomic testing in primary care settings and what shapes their decisions. The findings are consistent: trust in a clinician is a central factor in whether patients proceed with testing, understand their results, and feel confident in the decisions they make.
What the Evidence Shows
The review identified a clear and consistent pattern across studies. Patients who had a clinician-led conversation before testing reported better understanding of the purpose and limitations of the test, greater confidence in their decisions, and more positive experiences overall.
The inverse was equally clear. Negative experiences were common when patients perceived their clinician as uncertain, underprepared, or unable to answer their questions. In those situations, patients were more likely to disengage from the process, feel anxious about their results, or question whether testing had been the right decision at all.
Beyond the clinical interaction, the review identified three persistent concerns that shaped patient decisions across multiple studies:
- The cost and affordability of testing
- Data privacy and how genetic information would be stored and used
- A lack of clarity about genetic risk, what a result means, and how to access follow-up services
These concerns did not resolve simply because testing became available. They required active, informed conversations to address.
Why This Matters Now
Genomic testing is no longer confined to specialist genetics services. The paper specifically notes that carrier screening for conditions such as familial hypercholesterolemia, hereditary cancer risk, and reproductive genetic carrier screening are all moving into primary care settings, driven by updated clinical guidelines and, in Australia, the introduction of Medicare-rebatable carrier screening.
This shift places GPs and referring clinicians at the centre of conversations they may not have been formally trained for. Patients are not waiting for a referral to a geneticist before forming views about testing. They are asking their GP first, and how that conversation goes has a significant downstream effect on whether testing proceeds and whether patients act on what they learn.
When the Conversation Does Not Go Well
The review is specific about what poor clinician engagement looks like in practice and what it costs.
Patients who felt their clinician lacked confidence or knowledge about genomic testing were more likely to report confusion about what the test was for, uncertainty about what to do with the result, and reduced trust in the overall clinical interaction.
The implication is significant. A genomic result delivered without adequate clinician support does not simply fail to add value. It can actively erode patient confidence and increase anxiety, outcomes that are worse than not testing at all.
Implications for Clinical Practice
The review concludes that integrating genomic medicine into primary care requires four things: trust-building between clinicians and consumers, enhanced clinician education and resources, active addressing of privacy and cost concerns, and strengthened collaboration with genetic specialists.
In practice, this translates to a few core considerations.
Pre-test conversations are as important as the result. Patients who understood why they were being tested and what the possible outcomes meant were better equipped to make decisions and manage findings. Framing testing as a proactive and informative tool, rather than a search for disease, made a meaningful difference to patient experience.
Clinician confidence shapes patient confidence. Clinicians do not need to be genomics experts, but they do need to be able to explain the purpose of a test, outline what a result does and does not tell them, and describe what the next step looks like in each scenario.
Privacy and cost concerns need to be addressed directly. Patients who had explicit conversations about how their data would be used and what out-of-pocket costs to expect reported more positive experiences and were more likely to proceed appropriately.
Referral pathways to genetic counselling matter. The review found that collaboration with genetic counsellors and specialists was consistently associated with improved patient understanding and decision-making, particularly for results requiring interpretation beyond what a general consultation could provide.
Looking Forward
As genomic applications expand across preventive care, oncology, cardiovascular medicine, and reproductive health, the clinician's role is not diminishing. It is becoming more important.
The science of genomic risk prediction is advancing quickly. The infrastructure of trust, communication, and structured support that allows patients to act on genomic information is developing more slowly. Bridging that gap is not a specialist problem. It is a primary care priority, and this review makes clear that it starts with the quality of the conversation.
Where Eugene fits in
The evidence points to a clear bottleneck: clinicians are the trusted entry point for genomic testing, but the burden of staying across an expanding field, knowing which tests are appropriate, understanding what results mean, and knowing how to counsel patients, is not realistic to place on a GP's shoulders.
Eugene is built for exactly this gap. Clinicians who partner with Eugene can offer patients access to genomic testing with the confidence that the education, counselling, and result interpretation is handled by specialists, without the GP needing to become one. The clinical relationship and the referral pathway stay intact. The knowledge infrastructure sits behind it.
For patients, this means the conversation starts with someone they trust. For clinicians, it means they can act on what the evidence recommends, offering testing proactively, responding to patient questions with a clear next step, without taking on the overhead of upskilling across a field that changes faster than most continuing education can keep pace with.
The systematic review makes the case that patients want their GP involved. Eugene makes it possible for GPs to be involved in the way that actually matters: as a trusted guide, not a genomics expert.
Reference: Sheriff, S., Vizheh, M., Patel, R. et al. A systematic review of consumers' knowledge, attitudes and experiences of primary health professionals' role in genomic medicine. Eur J Hum Genet 33, 1567–1578 (2025). https://doi.org/10.1038/s41431-025-01904-y
